GTR Home > Conditions/Phenotypes > Familial cold autoinflammatory syndrome 2

Summary

Familial cold autoinflammatory syndrome is a condition that causes episodes of fever, skin rash, and joint pain after exposure to cold temperatures. These episodes usually begin in infancy and occur throughout life. People with this condition usually experience symptoms after cold exposure of an hour or more, although in some individuals only a few minutes of exposure is required. Symptoms may be delayed for up to a few hours after the cold exposure. Episodes last an average of 12 hours, but may continue for up to 3 days. In people with familial cold autoinflammatory syndrome, the most common symptom that occurs during an episode is an itchy or burning rash. The rash usually begins on the face or extremities and spreads to the rest of the body. Occasionally swelling in the extremities may occur. In addition to the skin rash, episodes are characterized by fever, chills, and joint pain, ... most often affecting the hands, knees, and ankles. Redness in the whites of the eye (conjunctivitis), sweating, drowsiness, headache, thirst, and nausea may also occur during an episode of this disorder. [from GHR] more

Available tests

5 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes for additional relevant tests.

Associated genes

  • Also known as: CLR19.3, FCAS2, NALP12, PAN6, PYPAF7, RNO, RNO2, NLRP12
    Summary: NLR family, pyrin domain containing 12

Clinical features

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  • Elevated C-reactive protein level
  • Arthralgia
  • Myalgia
  • Sensorineural hearing impairment
  • Episodic fever

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